Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HTR7P1	93164	broad.mit.edu	37	12	13154542	13154542	+	RNA	SNP	C	C	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr12:13154542C>A	uc010shq.2	+	0		c.1167C>A			HEBP1_uc001rbd.3_5'Flank|HTR7P1_uc001rbh.3_Intron					Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 (HTR7P1), non-coding RNA.																		GACGGTGGCGCCGAACCGGTC	0.746000													2	0					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr12:25398285C>A	uc001rgp.1	-	1	215	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8564)|p.G12C(5976)|p.G12V(5758)|p.G12S(2576)|p.G12R(1579)|p.G12A(1401)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G10_A11insG(5)|p.A11_G12insGA(4)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.G12E(3)|p.A11P(2)|p.G12fs*3(1)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			10	3					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73616239	73616239	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr15:73616239C>T	uc002avp.3	-	7	3189	c.2195G>A	c.(2194-2196)gGc>gAc	p.G732D		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	732					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTTGAAGACGCCGGAGTTGAG	0.597000													22	30					0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9075367	9075367	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr12:9075367C>G	uc001qvd.3	+	5	751	c.595C>G	c.(595-597)Cat>Gat	p.H199D	PHC1_uc001qvc.1_Missense_Mutation_p.H154D|PHC1_uc010sgn.1_Missense_Mutation_p.H199D|PHC1_uc001qve.3_Missense_Mutation_p.H199D	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	199					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	p.H199Y(4)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						TCCTGGAGTTCATGCAGATGC	0.592000													9	9					0	0	1	0	0
MRPS11	64963	broad.mit.edu	37	15	89021195	89021195	+	Silent	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr15:89021195G>A	uc002bml.3	+	5	835	c.570G>A	c.(568-570)aaG>aaA	p.K190K	MRPS11_uc002bmm.3_Silent_p.K157K|MRPS11_uc002bmn.3_Silent_p.K189K|MRPS11_uc010bnj.3_Non-coding_Transcript	NM_022839	NP_073750	P82912	RT11_HUMAN	Homo sapiens mitochondrial ribosomal protein S11 (MRPS11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	190					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCCCCAGGAAGGCTCGGAAGC	0.587000													38	31					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112022454	112022454	+	Silent	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chrX:112022454C>T	uc004epr.3	-	9	2946	c.2928G>A	c.(2926-2928)ccG>ccA	p.P976P	AMOT_uc004eps.3_Silent_p.P567P|AMOT_uc011mtc.1_Silent_p.P216P	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	976					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GAACTGGAGCCGGAGCAGCTG	0.627000													9	8					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414338	68414338	+	RNA	SNP	G	G	T	rs62545747		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr9:68414338G>T	uc004aex.3	+	0		c.893G>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		gcttagtgaagatgtagaatt	0.413000													3	16					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35061024	35061024	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr20:35061024G>A	uc002xff.3	+	2	1339	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	DLGAP4_uc010zvp.2_Missense_Mutation_p.A302T	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	302					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCTCAGCCACGCCCACGAGGT	0.637000													4	17					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr3:75475709T>C	uc003dpp.4	-	6	888	c.529A>G	c.(529-531)Atc>Gtc	p.I177V	FAM86DP_uc003dps.4_Non-coding_Transcript|FAM86DP_uc003dpq.4_Missense_Mutation_p.I85V|FAM86DP_uc003dpr.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562000													3	42					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66218763	66218763	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr4:66218763C>A	uc003hcy.3	-	12	2488	c.2295G>T	c.(2293-2295)ttG>ttT	p.L765F	EPHA5_uc003hcx.3_Missense_Mutation_p.L697F|EPHA5_uc003hcz.3_Missense_Mutation_p.L743F|EPHA5_uc011cah.2_Missense_Mutation_p.L766F|EPHA5_uc011cai.2_Missense_Mutation_p.L744F|EPHA5_uc003hda.2_Missense_Mutation_p.L766F	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	765	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCCTACCTTCAAAAATGTAT	0.358000										TSP Lung(17;0.13)			9	13					0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90276788	90276788	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr6:90276788C>G	uc003pni.4	+	1	434	c.93C>G	c.(91-93)aaC>aaG	p.N31K	ANKRD6_uc003pne.4_Missense_Mutation_p.N31K|ANKRD6_uc003pnf.4_Missense_Mutation_p.N31K|ANKRD6_uc011dzy.2_Missense_Mutation_p.N31K|ANKRD6_uc010kcd.3_Missense_Mutation_p.N31K	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	31							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGCTCATCAACAAGGGCGCCA	0.502000													6	9					0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219249939	219249939	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr2:219249939G>A	uc002vhv.3	+	3	683	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	SLC11A1_uc010zkb.1_Missense_Mutation_p.V115M|SLC11A1_uc010fvp.1_Missense_Mutation_p.V115M|SLC11A1_uc010fvq.1_Missense_Mutation_p.V48M|SLC11A1_uc010zkc.1_Missense_Mutation_p.V48M|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.3_5'UTR|SLC11A1_uc010fvr.3_5'Flank	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	115					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	p.V115M(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGTCTGGGCGTGGTGACAGG	0.632000													41	112					0	0	1	0	0
POTED	317754	broad.mit.edu	37	21	15011886	15011886	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr21:15011886G>A	uc002yjb.1	+	9	1512	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	487						plasma membrane		p.G487E(2)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CAGAACACTGGAATATCACAA	0.323000													3	30					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71582903	71582903	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr2:71582903C>A	uc002shx.3	+	2	1695	c.1372C>A	c.(1372-1374)Cgt>Agt	p.R458S	ZNF638_uc010fec.2_Missense_Mutation_p.R564S|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.R458S|ZNF638_uc002shz.3_Missense_Mutation_p.R458S|ZNF638_uc002shy.3_Missense_Mutation_p.R458S|ZNF638_uc002sia.3_Missense_Mutation_p.R458S|ZNF638_uc002sib.1_Missense_Mutation_p.R458S	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	458					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCGACAGTTACGTCAACAGTA	0.284000													3	7					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169626326	169626326	+	Silent	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr6:169626326G>A	uc003qwt.3	-	16	2735	c.2487C>T	c.(2485-2487)gaC>gaT	p.D829D		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	829					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.G828G(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCCCCACACCGTCACCATCCG	0.542000													46	49					0	0	1	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42538732	42538732	+	Missense_Mutation	SNP	C	C	A	rs4992865		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr22:42538732C>A	uc003bci.3	-	2	613	c.232G>T	c.(232-234)Gcc>Tcc	p.A78S	CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.A78S					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						CACCCACCGGCTTGGTCGGCG	0.682000													4	1					0	0	1	0	0
NPC2	10577	broad.mit.edu	37	14	74951225	74951225	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr14:74951225G>A	uc001xpy.3	-	2	363	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	NPC2_uc010tus.2_Missense_Mutation_p.P86S	NM_006432	NP_006423	P61916	NPC2_HUMAN	Homo sapiens Niemann-Pick disease, type C2 (NPC2), mRNA.	86			P -> L (in dbSNP:rs4688).		cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		TCAGGAATGGGAAAGGGAACT	0.433000													37	52					0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9874913	9874913	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr3:9874913G>T	uc003btg.3	+	10	2156	c.1680G>T	c.(1678-1680)caG>caT	p.Q560H	TTLL3_uc003btd.4_Intron|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_Intron|TTLL3_uc010hco.1_Intron|TTLL3_uc003bth.4_Missense_Mutation_p.Q348H|TTLL3_uc011atj.2_Missense_Mutation_p.Q496H|TTLL3_uc003btj.4_Intron|TTLL3_uc003bti.4_Missense_Mutation_p.Q348H	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	560					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGCTGACCCAGCGAGGCTCTG	0.647000													11	23					0	0	1	0	0
FUCA1	2517	broad.mit.edu	37	1	24175172	24175172	+	Missense_Mutation	SNP	C	C	T	rs145603001	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:24175172C>T	uc001bie.3	-	5	1210	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q		NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	376					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CCATTGCACCCGCCATGGTTT	0.478000													10	20					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42299024	42299024	+	Silent	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr22:42299024C>T	uc003bbi.3	+	16	3127	c.2958C>T	c.(2956-2958)ctC>ctT	p.L986L	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	986					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGACAGCGCTCTGGCAAAAAC	0.657000													4	0					0	0	1	0	0
PTP4A3	11156	broad.mit.edu	37	8	142441037	142441037	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr8:142441037G>A	uc003ywg.1	+	4	749	c.415G>A	c.(415-417)Gga>Aga	p.G139R	PTP4A3_uc003ywh.1_Missense_Mutation_p.G114R|PTP4A3_uc010met.1_Silent_p.A52A	NM_032611	NP_116000	O75365	TP4A3_HUMAN	Homo sapiens protein tyrosine phosphatase type IVA, member 3 (PTP4A3), transcript variant 1, mRNA.	139	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GAAGCGCCGCGGAGCCATCAA	0.597000													15	17					0	0	1	0	0
PIP5K1P1	206426	broad.mit.edu	37	6	7987001	7987001	+	Silent	SNP	T	T	C			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr6:7987001T>C	uc003mxx.4	+	0	667	c.232T>C	c.(232-234)Tta>Cta	p.L78L	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		TGCCATCCAGTTAGGCATTAC	0.483000													17	20					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145661426	145661426	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr8:145661426C>T	uc011llg.2	-	16	2405	c.2390G>A	c.(2389-2391)cGg>cAg	p.R797Q	AK298596_uc011llh.1_Intron	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.	797					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCCCACACCCCGGATGGCTGC	0.726000													11	2					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153131272	153131272	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chrX:153131272G>A	uc004fjb.3	-	18	2542	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S	L1CAM_uc004fjc.3_Missense_Mutation_p.P812S|L1CAM_uc010nuo.3_Missense_Mutation_p.P807S	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	812	Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTGCCTGGGGGTCTGGAAAC	0.592000													50	55					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160168791	160168791	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:160168791C>A	uc010pja.2	+	8	1189	c.932C>A	c.(931-933)aCt>aAt	p.T311N		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	311						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGATAACACTGAAAACCCA	0.502000													19	31					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5144364	5144364	+	Silent	SNP	T	T	C			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr10:5144364T>C	uc001ihr.3	+	5	825	c.642T>C	c.(640-642)gtT>gtC	p.V214V	AKR1C3_uc021pml.1_Silent_p.V214V|AKR1C3_uc010qap.2_Silent_p.V191V|AKR1C3_uc001ihu.3_Silent_p.V214V	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	214					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TTGTTCTGGTTGCCTATAGTG	0.383000													20	30					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	G			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr17:7578556T>G	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGGGAGTACTGTAGGAAGAG	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	3					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414330	68414330	+	RNA	SNP	T	T	C			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr9:68414330T>C	uc004aex.3	+	0		c.885T>C								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		atgattaagcttagtgaagat	0.428000													3	20					0	0	1	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42538733	42538733	+	Missense_Mutation	SNP	T	T	G	rs4992864		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr22:42538733T>G	uc003bci.3	-	2	612	c.231A>C	c.(229-231)caA>caC	p.Q77H	CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.Q77H					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						ACCCACCGGCTTGGTCGGCGA	0.682000													4	1					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184606530	184606530	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr4:184606530T>G	uc003ivx.3	+	16	1938	c.1736T>G	c.(1735-1737)aTa>aGa	p.I579R	TRAPPC11_uc003ivw.3_Missense_Mutation_p.I579R|TRAPPC11_uc010isc.3_Intron|TRAPPC11_uc003ivy.3_Missense_Mutation_p.I185R	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	579																	ATTTTCACAATAGGAGTACAG	0.408000													47	43					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1155683	1155683	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr11:1155683G>A	uc021qbr.1	+	3	418	c.371G>A	c.(370-372)cGc>cAc	p.R124H				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	120	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.R124L(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTACGCCGCAGCCAGGAG	0.637000													27	2					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178921552	178921552	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr3:178921552A>C	uc003fjk.3	+	4	1191	c.1034A>C	c.(1033-1035)aAt>aCt	p.N345T		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	345					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(45)|p.N345I(7)|p.V344G(5)|p.V344A(3)|p.V344M(3)|p.N345S(2)|p.N345D(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACCTACGTGAATGTAAATATT	0.303000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			19	16					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153249384	153249384	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr4:153249384C>T	uc003ims.3	-	8	1556	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	FBXW7_uc011cii.2_Missense_Mutation_p.R465H|FBXW7_uc003imt.3_Missense_Mutation_p.R465H|FBXW7_uc011cih.2_Missense_Mutation_p.R289H|FBXW7_uc003imq.3_Missense_Mutation_p.R385H|FBXW7_uc003imr.3_Missense_Mutation_p.R347H	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R465H(125)|p.R465C(69)|p.R385H(16)|p.R226H(16)|p.R465L(8)|p.R465Y(4)|p.R347H(4)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								39	58					0	0	1	0	0
BMF	90427	broad.mit.edu	37	15	40398008	40398008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr15:40398008G>A	uc001zkv.3	-	1	366	c.280C>T	c.(280-282)Cga>Tga	p.R94*	BMF_uc001zkt.3_Nonsense_Mutation_p.R94*|BMF_uc001zku.3_Nonsense_Mutation_p.R94*|BMF_uc001zkw.3_Nonsense_Mutation_p.R94*	NM_033503	NP_277038	Q96LC9	BMF_HUMAN	Homo sapiens Bcl2 modifying factor (BMF), transcript variant 2, mRNA.	94					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		TAAAAGAGTCGCTGGGGTTCC	0.577000													50	71					0	0	1	0	0
TAF5	6877	broad.mit.edu	37	10	105139460	105139460	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr10:105139460G>T	uc001kwv.3	+	3	1232	c.1209G>T	c.(1207-1209)aaG>aaT	p.K403N	TAF5_uc010qqq.2_Missense_Mutation_p.K403N	NM_006951	NP_008882	Q15542	TAF5_HUMAN	Homo sapiens TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa (TAF5), mRNA.	403	Poly-Lys.				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.K402E(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CTAAAAAGAAGAAGCCTAAAA	0.373000													14	20					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr22:22664606A>G	uc021wml.1	+	32		c.2706A>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GTCTTCATGCAAACTTGGTAT	0.398000													3	6					0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22986093	22986093	+	Silent	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:22986093C>T	uc001bgd.3	+	1	276	c.144C>T	c.(142-144)ggC>ggT	p.G48G		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	48	Collagen-like 1.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGACACCTGGCCCCGATGGCC	0.602000													9	14					0	0	1	0	0
ZIC3	7547	broad.mit.edu	37	X	136649210	136649210	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chrX:136649210C>A	uc004fak.3	+	0	865	c.360C>A	c.(358-360)ttC>ttA	p.F120L		NM_003413	NP_003404	O60481	ZIC3_HUMAN	Homo sapiens Zic family member 3 (ZIC3), mRNA.	120					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGTTTCTGTTCCGCCAGCGCA	0.677000													4	2					0	0	1	0	0
AK128837	0	broad.mit.edu	37	22	21538171	21538171	+	RNA	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr22:21538171G>A	uc002zuk.4	+	0		c.169G>A			AK128837_uc002zul.4_Non-coding_Transcript					Homo sapiens cDNA FLJ46366 fis, clone TESTI4051388.																		CGAGGACGCCGCCCAGGGCAT	0.726000													2	0					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36046394	36046394	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr19:36046394G>A	uc002oal.1	-	13	2134	c.2105C>T	c.(2104-2106)gCg>gTg	p.A702V	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	702					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCTGGTGCGCGCAAACACCAT	0.662000													5	163					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570285	61570285	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr18:61570285G>A	uc010xeu.2	+	8	1327	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	SERPINB2_uc002ljo.3_Missense_Mutation_p.A332T|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	332					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CATGGAGGACGCCTTCAACAA	0.463000													22	33					0	0	1	0	0
POTED	317754	broad.mit.edu	37	21	14982927	14982927	+	Silent	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr21:14982927C>T	uc002yjb.1	+	0	430	c.378C>T	c.(376-378)agC>agT	p.S126S		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	126						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ACGACCACAGCGCCTTCATGG	0.597000													50	89					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150933180	150933181	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:150933180_150933181delGT	uc001evu.2	+	15	2832_2833	c.2642_2643delGT	c.(2641-2643)agtfs	p.S881fs	SETDB1_uc001evv.2_Frame_Shift_Del_p.S881fs|SETDB1_uc009wmg.2_Frame_Shift_Del_p.S881fs	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	881	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGACAGCAGTGGTGTAGACT	0.475													28	47	---	---	---	---					
C1orf124	83932	broad.mit.edu	37	1	231487057	231487057	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:231487057delA	uc001hur.3	+	3	906	c.458delA	c.(457-459)catfs	p.H153fs	C1orf124_uc001hus.3_Frame_Shift_Del_p.H153fs|C1orf124_uc001hut.3_Frame_Shift_Del_p.H110fs	NM_032018	NP_114407	Q9H040	CA124_HUMAN	Homo sapiens chromosome 1 open reading frame 124 (C1orf124), transcript variant 1, mRNA.	153					DNA repair	nuclear speck	DNA binding|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CAGGTATACCATACTTTTCAC	0.413													19	64	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67576381	67576382	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr5:67576381_67576382insC	uc003jva.3	+	5	1240_1241	c.660_661insC	c.(658-663)attcagfs	p.I220fs		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	220	Rho-GAP.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAGAATATATTCAGCTATTGAA	0.351			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			105	90	---	---	---	---					
LOC100132354	100132354	broad.mit.edu	37	6	43858933	43858934	+	RNA	INS	-	-	TC	rs147963341	by1000genomes	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr6:43858933_43858934insTC	uc011dvm.2	+	0		c.169_170insTC								Homo sapiens uncharacterized LOC100132354 (LOC100132354), non-coding RNA.																		CCTTTTCTGCTTCTCTGCTCCT	0.515													2	4	---	---	---	---					
TTF1	7270	broad.mit.edu	37	9	135251330	135251330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr9:135251330delA	uc004cbl.3	-	10	2759	c.2690delT	c.(2689-2691)ttgfs	p.L897fs	TTF1_uc004cbm.3_Frame_Shift_Del_p.L382fs|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	897					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ttggcctcccaaagtactgga	0.483													4	9	---	---	---	---					
ZNF830	91603	broad.mit.edu	37	17	33289163	33289164	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr17:33289163_33289164delCA	uc002hih.4	+	0	615_616	c.578_579delCA	c.(577-579)tcafs	p.S193fs	CCT6B_uc002hig.3_5'Flank|CCT6B_uc010ctg.3_5'Flank|CCT6B_uc010wcc.2_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	Homo sapiens zinc finger protein 830 (ZNF830), mRNA.	193					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				AAGGAGCACTCAGTTTCCTCTT	0.525													22	23	---	---	---	---					
JAG1	182	broad.mit.edu	37	20	10653632	10653635	+	Frame_Shift_Del	DEL	AACT	AACT	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr20:10653632_10653635delAACT	uc002wnw.2	-	1	617_620	c.101_104delAGTT	c.(100-105)cagttcfs	p.Q34fs		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	34					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CTCCAACTCGAACTGACCCGAGGC	0.642									Alagille Syndrome				22	62	---	---	---	---					
